"Athena Diagnostics"[submitter] AND "TMEM43"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 46153	NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp)	TMEM43 (R28W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 178816	NM_024334.3(TMEM43):c.163-3del	TMEM43	Deletion (intron variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 343504	NM_024334.3(TMEM43):c.279C>T (p.Gly93=)	TMEM43	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 701351	NM_024334.3(TMEM43):c.600C>T (p.Val200=)	TMEM43	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 926060	NM_024334.3(TMEM43):c.700C>T (p.Pro234Ser)	TMEM43 (P234S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +6 more	GUncertain significance
Select item 448690	NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp)	TMEM43 (R268W)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 46138	NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr)	TMEM43 (A366T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign
Select item 343509	NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs)	TMEM43	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 5 +3 more	GConflicting classifications of pathogenicity
Select item 46136	NM_024334.3(TMEM43):c.*8C>T	TMEM43	Single nucleotide variant (3 prime UTR variant)	not specified +3 more	GConflicting classifications of pathogenicity